Table 1.
Clinical Characteristics of Amish PCD-Affected Subjects with HEATR2 Mutant Alleles
| Subject | Age | Gender | Clinical Manifestations | Laterality | Ultrastructural Defect | Nasal NO (nl/min) |
|---|---|---|---|---|---|---|
| VII-12 | 36 | M | NRD, RS, CB, IN | SS | ODA-IDA | 1.2 |
| VII-13 | 40 | M | OM, RS, CB | SI | ODA-IDA | 1.6 |
| VII-10 | 20 | M | NRD, RS, CB, IN | SI | ODA-IDA | 4.2 |
| VII-17 | 28 | M | NRD, RS | SS | ODA-IDA | 3.6 |
| VIII-1 | 1.1 | F | NRD, RS | SS | ODA-IDA | 8.3 |
| VIII-7 | 8 | F | NRD, RS | SI | ODA-IDA | 11.6 |
| VIII-8 | 0.3 | M | NRD, RS | SI | ODA-IDA | 6.9 |
| VIII-6 | 0.3 | F | NRD, RS | SS | ODA-IDA | 7.5 |
| VIII-5 | 0.2 | M | CHD, NRD, OM | SA | ODA-IDA | 9.5 |
Normal nNO level > 100 nl/ml.
The following abbreviations are used: NO, nitric oxide; nl, nanoliter; M, male; F, female; NRD, neonatal respiratory distress or hypoxemia; RS, rhinosinusitus; CB, chronic bronchitis; IN, infertility; OM, chronic or recurrent otitis media; CHD, congenital heart disease; SS, situs solitus; SI, situs inversus totalis; SA, situs ambiguus; ODA, outer dynein arm; and IDA, inner dynein arm.